rs28934568

Orientation

plus

Stabilized

plus

Geno	Mag	Summary
(C;C)	3
(C;T)	7	Loeys-Dietz Syndrome
(T;T)	0	common in clinvar

Reference

GRCh38 38.1/141

Chromosome

3

Position

30672106

Gene

TGFBR2

is a	snp
is	mentioned by
dbSNP	rs28934568
dbSNP (classic)	rs28934568
ClinGen	rs28934568
ebi	rs28934568
HLI	rs28934568
Exac	rs28934568
Gnomad	rs28934568
Varsome	rs28934568
LitVar	rs28934568
Map	rs28934568
PheGenI	rs28934568
Biobank	rs28934568
1000 genomes	rs28934568
hgdp	rs28934568
ensembl	rs28934568
geneview	rs28934568
scholar	rs28934568
google	rs28934568
pharmgkb	rs28934568
gwascentral	rs28934568
openSNP	rs28934568
23andMe	rs28934568
SNPshot	rs28934568
SNPdbe	rs28934568
MSV3d	rs28934568
GWAS Ctlg	rs28934568

Max Magnitude

7

OMIM	190182
Desc	MARFAN SYNDROME, TYPE II
Variant	0005
Related	also

ClinVar
Risk	Rs28934568(C;C)
Alt	Rs28934568(C;C)
Reference	Rs28934568(T;T)
Significance	Pathogenic
Disease	Loeys-Dietz syndrome 2
Variation	info
Gene	TGFBR2
CLNDBN	Loeys-Dietz syndrome 2
Reversed	0
HGVS	NC_000003.11:g.30713598T>C
CLNSRC	OMIM Allelic Variant UniProtKB (protein)
CLNACC	RCV000013329.25,